Variant report

Variant	esv3342738
Chromosome Location	chr16:34781001-34783199
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr16:34782133-34782135	MCF-7	breast:	n/a	n/a
2	POLR2A	chr16:34782147-34782204	MCF-7	breast:	n/a	n/a
3	POLR2A	chr16:34782069-34782132	A549	lung:	n/a	n/a
4	POLR2A	chr16:34782155-34782161	A549	lung:	n/a	n/a
5	POLR2A	chr16:34781272-34781310	GM12878	blood:	n/a	n/a
6	POLR2A	chr16:34782137-34782231	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr16:34782117-34782142	MCF-7	breast:	n/a	n/a
8	POLR2A	chr16:34782052-34782210	MCF-7	breast:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:34781451-34781501	AG04449	skin:	fetal
2	chr16:34781451-34781501	HCT-116	colon:	n/a
3	chr16:34781451-34781501	NB4	blood:	n/a
4	chr16:34781451-34781501	GM12892	blood:	n/a
5	chr16:34781451-34781501	PANC-1	pancreas:	n/a
6	chr16:34781451-34781501	K562	blood:	n/a
7	chr16:34781451-34781501	GM12891	blood:	n/a
8	chr16:34781451-34781501	HUVEC	blood vessel:	n/a
9	chr16:34781451-34781501	HRCEpiC	kidney:	n/a
10	chr16:34781451-34781501	HL-60	blood:	n/a
11	chr16:34781451-34781501	HNPCEpiC	eye:	n/a
12	chr16:34781451-34781501	U87	brain:	n/a
13	chr16:34781451-34781501	RPTEC	kidney:	n/a
14	chr16:34781451-34781501	A549	lung:	n/a
15	chr16:34781451-34781501	AG10803	skin:	n/a
16	chr16:34781451-34781501	HRPEpiC	eye:	n/a
17	chr16:34781451-34781501	Hela-S3	cervix:	n/a
18	chr16:34781451-34781501	AG09319	gingival:	n/a
19	chr16:34781451-34781501	GM12878	blood:	n/a
20	chr16:34781451-34781501	HCM	heart:	n/a
21	chr16:34781451-34781501	T-47D	breast:	n/a
22	chr16:34781451-34781501	BE2_C	brain:	n/a
23	chr16:34781451-34781501	HMEC	breast:	n/a
24	chr16:34781451-34781501	ProgFib	skin:	n/a
25	chr16:34781451-34781501	GM19239	blood:	n/a
26	chr16:34781451-34781501	Hepatocyte	liver:	n/a
27	chr16:34781451-34781501	NHDF-neo	bronchial:	n/a
28	chr16:34781451-34781501	HAEpiC	amniotic membrane:	n/a
29	chr16:34781451-34781501	HCPEpiC	choroid plexus:	n/a
30	chr16:34781451-34781501	MCF10A-Er-Src	breast:	n/a
31	chr16:34781451-34781501	NT2-D1	testis:	n/a
32	chr16:34781451-34781501	Jurkat	blood:	n/a
33	chr16:34781451-34781501	PrEC	prostate:	n/a
34	chr16:34781451-34781501	GM06990	blood:	n/a
35	chr16:34781451-34781501	NHBE	bronchial:	n/a
36	chr16:34781451-34781501	HPAEpiC	pulmonary alveolar:	n/a
37	chr16:34781451-34781501	PFSK-1	brain:	n/a
38	chr16:34781451-34781501	SK-N-MC	brain:	n/a
39	chr16:34781451-34781501	H1-hESC	embryonic stem cell:	embryo
40	chr16:34781451-34781501	ovcar-3	ovarian:	n/a
41	chr16:34781451-34781501	MCF-7	breast:	n/a
42	chr16:34781451-34781501	AG04450	lung:	fetal
43	chr16:34781451-34781501	ECC-1	luminal epithelium:	n/a
44	chr16:34781451-34781501	HEEpiC	esophagus:	n/a
45	chr16:34781451-34781501	SK-N-SH_RA	brain:	n/a
46	chr16:34781451-34781501	Caco-2	colon:	n/a
47	chr16:34781451-34781501	IMR90	lung:	fetal
48	chr16:34781451-34781501	SK-N-SH	brain:	n/a
49	chr16:34781451-34781501	SKMC	muscle:	n/a
50	chr16:34781451-34781501	HCF	heart:	n/a

No data

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CTD-2144E22.5.1-32	chr16:34782288-34783200	NONHSAT142214

No data

Variant related genes	Relation type
ENSG00000261046	TF binding region
ENSG00000260994	TF binding region
RARRES2P8	TF binding region
ENSG00000261046	CpG island
ENSG00000260994	CpG island
RARRES2P8	CpG island

Extended variants
information (count: 54 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:54 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144802677	chr16:34781278-34781279	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
2	rs58227353	chr16:34781282-34781283	Inactive region	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs55947128	chr16:34781289-34781290	Inactive region	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs576904443	chr16:34781304-34781305	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
5	rs78917160	chr16:34781479-34781480	Inactive region	CpG island	2 gene(s)	Overlapped CNVs	n/a
6	rs146047088	chr16:34782069-34782070	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
7	rs534209861	chr16:34782187-34782188	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
8	rs185415433	chr16:34782211-34782212	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
9	rs577360855	chr16:34782223-34782224	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
10	rs140025271	chr16:34782297-34782298	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs574170054	chr16:34782312-34782313	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs541455391	chr16:34782326-34782327	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs190082674	chr16:34782330-34782331	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs193021141	chr16:34782335-34782336	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs545777949	chr16:34782360-34782361	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs564359140	chr16:34782369-34782370	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs372914889	chr16:34782372-34782373	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs548540524	chr16:34782413-34782414	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs77524267	chr16:34782459-34782460	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs78146121	chr16:34782524-34782525	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs569396454	chr16:34782526-34782527	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs538629202	chr16:34782554-34782555	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs548636042	chr16:34782560-34782561	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs566740863	chr16:34782644-34782645	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs76013477	chr16:34782646-34782647	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs534554184	chr16:34782728-34782729	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs421408	chr16:34782752-34782753	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs375813483	chr16:34782776-34782777	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs558987297	chr16:34782790-34782791	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs554163296	chr16:34782808-34782809	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs527523174	chr16:34782810-34782811	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs538074093	chr16:34782851-34782852	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs556319978	chr16:34782862-34782863	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs112947271	chr16:34782872-34782873	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs541516698	chr16:34782904-34782905	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs553778390	chr16:34782936-34782937	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs569985201	chr16:34782956-34782957	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
38	rs116587924	chr16:34782960-34782961	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
39	rs545744689	chr16:34782973-34782974	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
40	rs564238932	chr16:34782977-34782978	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
41	rs576377208	chr16:34782981-34782982	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
42	rs369030653	chr16:34782992-34782993	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs543668419	chr16:34783011-34783012	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
44	rs561849418	chr16:34783018-34783019	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
45	rs184751648	chr16:34783057-34783058	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs548388342	chr16:34783066-34783067	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs560583951	chr16:34783068-34783069	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs527691984	chr16:34783071-34783072	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs552518323	chr16:34783073-34783074	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
50	rs201604255	chr16:34783077-34783078	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Endometrioid adenocarcinoma	16974079	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Autism	22566537	CNVD
Intellectual disability	22566537	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	22958593	CNVD
Ductal carcinoma	22052326	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21785460	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Benign familial neonatal-infantile seizures	21060786	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Cancer	21183584	CNVD
Disorders of sex development	21048976	CNVD
Low-grade fibromyxoid sarcoma	21536545	CNVD
Breast cancer	21045282	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Wilms tumour	21544195	CNVD
Cancer	20164920	CNVD
Breast cancer	21364760	CNVD
Renal cell carcinoma	18194544	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Schizophrenia	23813976	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	18632612	CNVD
Autism	18414403	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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